FREDERIC B.ASKINMDWILLIAM H.WESTRAMD
Chronic granulomatous disease is a defect of intracellular killing by neutrophils and mononuclear phagocytes. Neutrophils provide the first line of defense against bacterial and fungal infections at the mucosal level. The disorders of phagocyte dysfunction can be grouped into abnormalities of adherence, chemotaxis, opsonization, phagocytosis, degranulation, and intracellular killing. Of these disorders, CGD is the most common; however, it is rare, with an incidence of 4 to 5 cases per 1 000 000. The inheritance pattern of CGD is X-linked or autosomal recessive. The X-linked pattern is the most common mode of inheritance, accounting for 60% to 70% of the cases.1 The autosomal recessive pattern is known to occur at specific gene loci on 3 chromosomes: 7, 1, and 16.2 In CGD, the neutrophil chemotaxis and phagocytosis are intact, but the killing of the microorganism is abnormal. Chronic granulomatous disease results from defects in any of the 4 genes (X, 7, 1, and 16) that encode subunits of the superoxide-generating phagocyte nicotinamide adenine dinucleotide phosphate oxidase. This process results in abnormal leukocyte oxidative metabolism and leads to impaired generation of bactericidal superoxide anion, hydrogen peroxide, and other oxygen metabolites, with resultant defective intracellular killing.3,4
Pathology Quiz Case 1—Diagnosis. Arch Otolaryngol Head Neck Surg. 2003;129(2):255. doi:10.1001/archotol.129.2.253
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: